Results 281 to 290 of about 126,155 (293)

Screening of Cytotoxic and Genotoxic Activities of Subcritical Water Extracts from <i>R. damascena</i> and <i>R. alba</i> Flowers. [PDF]

Molecules
Gerasimova T, Gateva S, Jovtchev G, Dobreva A, Mileva M, Kokanova-Nedialkova Z, Gospodinova M, Angelova T, Nedialkov P.   +8 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Xq24/<i>IL13RA1</i> aberrations as key drivers of female bias in primary mediastinal large B-cell lymphoma. [PDF]

Hemasphere
Marcelis L, Allsop RN, Vanden Bempt M, Debackere K, Renard F, Tuveri S, Dierickx D, Janiszewski A, Balaton BP, Vets J, Dewaele B, Michaux L, Vandenberghe P, Cools J, Vermeesch JR, Tousseyn T, Pasque V, Wlodarska I.   +17 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

From Sample to Sequencing: The Importance of Pre-Analytical Sample Treatment in NGS Analysis of Patients with Chronic Lymphocytic Leukemia. [PDF]

Cancers (Basel)
Suver Stević M, Holik H, Periša V, Marczi S, Kolobarić N, Samardžija M.   +5 more
europepmc   +1 more source

Chromosomal Aberrations in Induced Pluripotent Stem Cells: Identification of Breakpoints in the Large <i>DCC</i> Gene and <i>HIST2</i> Histone Gene Cluster. [PDF]

Int J Mol Sci
Zheglo D, Pozhitnova VO, Kislova AV, Markova ZG, Kiselev D, Sviridov PS, Sviridova V, Gumerova LI, Smirnikhina SA, Alsalloum A, Pylina SV, Kutsev SI, Voronina ES.   +12 more
europepmc   +1 more source

The theory of dual radiation action [PDF]

, 1974
Kellerer, Albrecht M., Rossi, H. H.
core  

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes. [PDF]

Acta Neuropathol Commun
Goschzik T, Yuan M, Pfaff E, Müller MEB, Mynarek M, Dörner E, Jones DTW, Pfister SM, Rutkowski S, Pietsch T.   +9 more
europepmc   +1 more source